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Journal Abstract Search

84 related items for PubMed ID: 10321316

  • 1. Update in genetics: genetic eye diseases and the ophthalmologist.
    MacDonald IM.
    Can J Ophthalmol; 1999 Apr; 34(2):69-73. PubMed ID: 10321316
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  • 4. Signs of Oguchi Disease and Pigmentary Degeneration from Early in Life.
    Nishiguchi KM, Kunikata H, Nakazawa T.
    Ophthalmology; 2020 Jun; 127(6):825. PubMed ID: 32444022
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  • 7. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2004 Oct; 111(10):1910-6. PubMed ID: 15465556
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  • 8. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2014 May 29; 55(6):3939-53. PubMed ID: 24876279
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  • 9. [The fluorescein angiogram in choroidermia (author's transl)].
    Hammerstein W, Leide E, Bischof G.
    Klin Monbl Augenheilkd; 1977 Oct 29; 171(4):592-6. PubMed ID: 304118
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  • 10. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
    Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP.
    Arch Ophthalmol; 2004 Jan 29; 122(1):70-5. PubMed ID: 14718298
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  • 13. Case report of Usher's syndrome in two sisters--first reported case in Singapore.
    Chuah G, Quah BL, Chuah CT, Balakrishnan A.
    Singapore Med J; 1998 Jan 29; 39(1):27-9. PubMed ID: 9557101
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  • 14. Genetics in ophthalmology.
    Can J Ophthalmol; 1978 Jul 29; 13(3):135-7. PubMed ID: 698883
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  • 15. Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.
    Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 2003 Jun 29; 121(6):793-802. PubMed ID: 12796249
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  • 17. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr 29; 47(4):1630-5. PubMed ID: 16565402
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  • 18. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
    Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 1997 Dec 29; 38(13):2750-5. PubMed ID: 9418727
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